6 documents found, page 1 of 1
Overexpression of wild-type IL-7Rα promotes T-cell acute lymphoblastic leukemia...
Silva, Ana; Almeida, Afonso; Cachucho, Ana; Neto, João Luís; Demeyer, Sofie; Ramos De Matos, Mafalda; Hogan, Thea; Li, Yunlei; Meijerink, JulesTight regulation of IL-7Rα expression is essential for normal T-cell development. IL-7Rα gain-of-function mutations are known drivers of T-cell acute lymphoblastic leukemia (T-ALL). Although a subset of patients with T-ALL display high IL7R messenger RNA levels and cases with IL7R gains have been reported, the impact of IL-7Rα overexpression, rather than mutational activation, during leukemogenesis remains uncl...
Interleukin-7 receptor α mutational activation can initiate precursor B-cell ac...
Almeida, Afonso; Neto, João Luís; Cachucho, Ana; Euzébio, Mayara; Meng, Xiangyu; Kim, Rathana; Fernandes, Marta; Raposo, Beatriz; Oliveira, Mariana L.Interleukin-7 receptor α (encoded by IL7R) is essential for lymphoid development. Whether acute lymphoblastic leukemia (ALL)-related IL7R gain-of-function mutations can trigger leukemogenesis remains unclear. Here, we demonstrate that lymphoid-restricted mutant IL7R, expressed at physiological levels in conditional knock-in mice, establishes a pre-leukemic stage in which B-cell precursors display self-renewal a...
A systematic pan-cancer analysis of genetic heterogeneity reveals associations ...
Ramos De Matos, Mafalda; Posa, Ioana; Carvalho, Filipa; Morais, Vanessa A.; Grosso, Ana Rita; de Almeida, Sérgio F.Intratumor genetic heterogeneity (ITH) is the main obstacle to effective cancer treatment and a major mechanism of drug resistance. It results from the continuous evolution of different clones of a tumor over time. However, the molecular features underlying the emergence of genetically-distinct subclonal cell populations remain elusive. Here, we conducted an exhaustive characterization of ITH across 2807 tumor ...
IL10 low-frequency variants in Behçet's disease patients
Ramos De Matos, Mafalda; Xavier, Joana M; Abrantes, Patrícia; Sousa, Inês; Rei, Nádia; Davatchi, Fereydoun; Shahram, Farhad; Jesus, GoreteAim: To explain the missing heritability after the genome-wide association studies era, sequencing studies allow the identification of low-frequency variants with a stronger effect on disease risk. Common variants in the interleukin 10 gene (IL10) have been consistently associated with Behçet's disease (BD) and the goal of this study is to investigate the role of low-frequency IL10 variants in BD susceptibility...
Pervasive transcription read-through promotes aberrant expression of oncogenes ...
Grosso, Ana Rita; Leite, Ana Paula; Carvalho, Silvia; Ramos De Matos, Mafalda; Martins, Filipa B.; Vítor, Alexandra; Desterro, JoanaAberrant expression of cancer genes and non-canonical RNA species is a hallmark of cancer. However, the mechanisms driving such atypical gene expression programs are incompletely understood. Here, our transcriptional profiling of a cohort of 50 primary clear cell renal cell carcinoma (ccRCC) samples from The Cancer Genome Atlas (TCGA) reveals that transcription read-through beyond the termination site is a sour...
Validation of a quantitative cerebrospinal fluid alpha-synuclein assay in a Eur...
Kruse, Niels; Persson, Staffan; Alcolea, Daniel; Bahl, Justyna M.C.; Baldeiras, Ines; Capello, Elisabetta; Chiasserini, DavideDecreased levels of alpha-synuclein (aSyn) in cerebrospinal fluid (CSF) in Parkinson's disease and related synucleinopathies have been reported, however, not consistently in all cross-sectional studies. To test the performance of one recently released human-specific enzyme-linked immunosorbent assay (ELISA) for the quantification of aSyn in CSF, we carried out a round robin trial with 18 participating laborator...